ADPKD affects more than 12 million people worldwide and is a common cause of end stage kidney disease. In the majority of cases, ADPKD is caused by mutations in one of two genes, PKD1 or PKD2, which are encoded by polycystin 1 (PC1) and PC2, respectively. Loss of both copies of PC1 or PC2 is associated with cyst formation and cyst enlargement by stimulating the enhanced growth of renal epithelia as well as the stimulation of apical chloride secretion via the cystic fibrosis transmembrane conductance regulator (CFTR). Over time, cysts become more numerous and larger in size and replace normal kidney tissue leading to loss of renal function.
The citation of references herein shall not be construed as an admission that such is prior art to the present invention.